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The Journal of Clinical Investigation|January 26, 2021
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humansThuy-Linh Le, Louise Galmiche, Jonathan Levy, et al.Journal of Medical Genetics|February 21, 2018
Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patientsMathilde Lefebvre, Anne Dieux-Coeslier, Geneviève Baujat, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2020
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineationSolveig Heide, Myrtille Spentchian, Stéphanie Valence, et al.Medrxiv : the Preprint Server for Health Sciences|June 9, 2023
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variantsCorrine Smolen, Matthew Jensen, Lisa Dyer, et al.American Journal of Human Genetics|November 18, 2023
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variantsCorrine Smolen, Matthew Jensen, Lisa Dyer, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2018
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variantsLucilla Pizzo, Matthew Jensen, Andrew Polyak, et al.Journal of Medical Genetics|June 7, 2024
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspectiveSilvestre Cuinat, Chloé Quélin, Claire Effray, et al.Genome Medicine|September 23, 2017
Identification of novel candidate disease genes from de novo exonic copy number variantsTomasz Gambin, Bo Yuan, Weimin Bi, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 24, 2023
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor betaVéronique Caron, Nicolas Chassaing, Nicola Ragge, et al.American Journal of Medical Genetics. Part A|October 1, 2015
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patientsSalima El Chehadeh, Laurence Faivre, Anne-Laure Mosca-Boidron, et al.Pageof 5